T46N (p.Thr46Asn) variant of ERCC2 (P18074)
T46N (p.Thr46Asn) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
T46N (p.Thr46Asn) variant details
- p.Thr46Asn
- rs2514045659
- ClinGen CA2695198223
- ClinVar RCV003467936
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available